Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000806511 | SCV000946515 | uncertain significance | Myofibrillar myopathy 4 | 2018-08-09 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine with arginine at codon 19 of the LDB3 protein (p.Gly19Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with LDB3-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Revvity Omics, |
RCV003132062 | SCV003816504 | uncertain significance | not provided | 2019-08-22 | criteria provided, single submitter | clinical testing |